The Siberian Scientific Medical Journal
№ 2 / 2013 / 54-62

Genetic load and orphan diseases in Siberian populations

Author Affiliations


According to some estimations hereditary diseases account for 20 % among the factors responsible for the level of human population health. Therefore the study of qualitative and quantitative features of the hereditary diseases load is an actual and important issue. Genetic load’s estimations allow establishing the priorities of public health care as well as main areas for basic researches. These data provide also possibility to introduce criteria for assessment of resulting effects of therapy and preventive activities.

Key words

genetic load, translational and precision medicine, ethnospecific and orphan diseases
About Authors (Correspondence):

Puzyrev V.P. – doctor of medical sciences, professor, academician of RAMS, director, e-mail:

Nazarenko L.Р. – doctor of medical sciences, professor, vice-director for science and medical work, e-mail:

Lebedev I.N. – doctor of biological sciences, head of laboratory of cytogenetics, e-mail:

Full Text

Received: 11/02/2015